Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mitochondrial complex I deficiency NDUFS4 disease C1838979 GeneticVariation 0.91 disgenet
Mitochondrial complex I deficiency NDUFS4 disease C1838979 GermlineCausalMutation 0.91 disgenet
Mitochondrial complex I deficiency NDUFS4 disease C1838979 Biomarker 0.91 disgenet
Mitochondrial complex I deficiency NDUFS4 disease C1838979 CausalMutation 0.91 disgenet
Mitochondrial complex I deficiency NDUFS6 disease C1838979 GeneticVariation 0.71 disgenet
Mitochondrial complex I deficiency NDUFS6 disease C1838979 GermlineCausalMutation 0.71 disgenet
Mitochondrial complex I deficiency NDUFS6 disease C1838979 Biomarker 0.71 disgenet
Mitochondrial complex I deficiency NDUFA1 disease C1838979 Biomarker 0.7 disgenet
Mitochondrial complex I deficiency NDUFA1 disease C1838979 GermlineCausalMutation 0.7 disgenet
Mitochondrial complex I deficiency NDUFV1 disease C1838979 Biomarker 0.64 disgenet
Mitochondrial complex I deficiency NDUFV1 disease C1838979 GermlineCausalMutation 0.64 disgenet
Mitochondrial complex I deficiency NDUFV1 disease C1838979 CausalMutation 0.64 disgenet
Mitochondrial complex I deficiency NDUFV1 disease C1838979 GeneticVariation 0.64 disgenet
Mitochondrial complex I deficiency NDUFS1 disease C1838979 CausalMutation 0.62 disgenet
Mitochondrial complex I deficiency NDUFS1 disease C1838979 Biomarker 0.62 disgenet
Mitochondrial complex I deficiency NDUFS1 disease C1838979 GermlineCausalMutation 0.62 disgenet
Mitochondrial complex I deficiency NDUFS1 disease C1838979 GeneticVariation 0.62 disgenet
Mitochondrial complex I deficiency NUBPL disease C1838979 Biomarker 0.61 disgenet
Mitochondrial complex I deficiency NDUFS2 disease C1838979 GeneticVariation 0.61 disgenet
Mitochondrial complex I deficiency NDUFS2 disease C1838979 GermlineCausalMutation 0.61 disgenet
Mitochondrial complex I deficiency NUBPL disease C1838979 GeneticVariation 0.61 disgenet
Mitochondrial complex I deficiency NDUFS2 disease C1838979 Biomarker 0.61 disgenet
Mitochondrial complex I deficiency NUBPL disease C1838979 GermlineCausalMutation 0.61 disgenet
Mitochondrial complex I deficiency NDUFB3 disease C1838979 GeneticVariation 0.6 disgenet
Mitochondrial complex I deficiency NDUFS3 disease C1838979 Biomarker 0.6 disgenet
Mitochondrial complex I deficiency NDUFS3 disease C1838979 GermlineCausalMutation 0.6 disgenet
Mitochondrial complex I deficiency NDUFB3 disease C1838979 Biomarker 0.6 disgenet
Mitochondrial complex I deficiency NDUFS3 disease C1838979 GeneticVariation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF5 disease C1838979 Biomarker 0.6 disgenet
Mitochondrial complex I deficiency FOXRED1 disease C1838979 Biomarker 0.6 disgenet
Mitochondrial complex I deficiency NDUFB3 disease C1838979 GermlineCausalMutation 0.6 disgenet
Mitochondrial complex I deficiency FOXRED1 disease C1838979 GermlineCausalMutation 0.6 disgenet
Mitochondrial complex I deficiency FOXRED1 disease C1838979 CausalMutation 0.6 disgenet
Mitochondrial complex I deficiency FOXRED1 disease C1838979 GeneticVariation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF2 disease C1838979 GeneticVariation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF2 disease C1838979 GermlineCausalMutation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF5 disease C1838979 GeneticVariation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF5 disease C1838979 GermlineCausalMutation 0.6 disgenet
Mitochondrial complex I deficiency NDUFAF2 disease C1838979 Biomarker 0.6 disgenet
Mitochondrial complex I deficiency NDUFS8 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFV2 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF1 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF4 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF3 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFS8 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF3 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFB9 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFB9 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF4 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFS7 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFA11 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFV2 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFA11 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFS7 disease C1838979 Biomarker 0.5 disgenet
Mitochondrial complex I deficiency NDUFAF1 disease C1838979 GermlineCausalMutation 0.5 disgenet
Mitochondrial complex I deficiency NDUFB11 disease C1838979 GeneticVariation 0.4 disgenet
Mitochondrial complex I deficiency ND2 disease C1838979 GermlineCausalMutation 0.4 disgenet
Mitochondrial complex I deficiency ND2 disease C1838979 CausalMutation 0.4 disgenet
Mitochondrial complex I deficiency NDUFB11 disease C1838979 CausalMutation 0.4 disgenet
Mitochondrial complex I deficiency NDUFB8 disease C1838979 GeneticVariation 0.31 disgenet
Mitochondrial complex I deficiency NDUFB8 disease C1838979 Biomarker 0.31 disgenet
Mitochondrial complex I deficiency NDUFA6 disease C1838979 GermlineCausalMutation 0.31 disgenet
Mitochondrial complex I deficiency NDUFA6 disease C1838979 GeneticVariation 0.31 disgenet
Mitochondrial complex I deficiency TMEM126B disease C1838979 GermlineCausalMutation 0.3 disgenet
Mitochondrial complex I deficiency NDUFB10 disease C1838979 GermlineCausalMutation 0.3 disgenet
Mitochondrial complex I deficiency ELAC2 disease C1838979 Biomarker 0.3 disgenet
Mitochondrial complex I deficiency ND1 disease C1838979 GermlineCausalMutation 0.3 disgenet
Mitochondrial complex I deficiency ND3 disease C1838979 GermlineCausalMutation 0.3 disgenet
Mitochondrial complex I deficiency TIMMDC1 disease C1838979 GermlineCausalMutation 0.3 disgenet
Mitochondrial complex I deficiency AIFM1 disease C1838979 Biomarker 0.2 disgenet
Mitochondrial complex I deficiency ND4 disease C1838979 CausalMutation 0.1 disgenet
Mitochondrial complex I deficiency NDUFA13 disease C1838979 CausalMutation 0.1 disgenet
Mitochondrial complex I deficiency SLC25A10 disease C1838979 GeneticVariation 0.1 disgenet
Mitochondrial complex I deficiency RPS6KB1 disease C1838979 Biomarker 0.02 disgenet
Mitochondrial complex I deficiency SIRT3 disease C1838979 Biomarker 0.01 disgenet
Mitochondrial complex I deficiency NDUFAF6 disease C1838979 GeneticVariation 0.01 disgenet
Mitochondrial complex I deficiency STXBP1 disease C1838979 GeneticVariation 0.01 disgenet
Mitochondrial complex I deficiency FMN1 disease C1838979 GeneticVariation 0.01 disgenet
Mitochondrial complex I deficiency GDAP1 disease C1838979 GeneticVariation 0.01 disgenet
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